A Study of the Efficacy and Safety of MT1621 in Thymidine Kinase 2 (TK2) Deficiency (Treatment naïve)

NCT04581733 | Withdrawn Phase 3 DMC FDA Drug

• 1 other identifier: MT-1621-104
• Study Type: interventional
• Target: N/A
• Locations: 0 countries
• Sites: N/A

Brief Summary

This is a Phase 3b, prospective, single-arm, multicenter, open-label treatment study of the efficacy and safety of MT1621 in pediatric and adolescent patients with thymidine kinase 2 deficiency (TK2d). In order to be eligible for this study, participants must have genetic confirmation of TK2d and must not have ever received MT1621 or nucleos(t)ides before entering the study.

Conditions

Thymidine Kinase 2 Deficiency

Keywords

TK2; TK2d; mitochondrial disorder; mitochondrial disease; Mitochondria; deoxythymidine/deoxythymidine substrate enhancement therapy; dC/dT; deoxythymidine/deoxythymidine; primary mitochondrial myopathy; mitochondrial depletion syndrome; Muscle weakness; Muscle atrophy; Loss of mobility; Thymidine kinase 2 deficiency

Outcome Measures

Primary Outcomes (1)

• Proportion of subjects acquiring a Motor Milestone

  Proportion of subjects acquiring a motor milestone not present at baseline after 12 months of MT1621 treatment.

  12 months

Secondary Outcomes (2)

• Time to Acquisition of a Motor Milestone

  12 months

• Survival

  12 months

Study Arms (1)

Single Arm

EXPERIMENTAL

Male and female Participants \<18 years

Drug: MT1621

Interventions

MT1621 DRUG

All patients will receive MT1621 up to a target dose of 400 mg/kg/day each dC and dT, as tolerated.

Also known as: Deoxycytidine (dC) and deoxythymidine (dT)

Single Arm

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Subject must be aged birth to \<18 years of age on the day of consent.
• Diagnosis of TK2 deficiency based on confirmed disease-causing mutation(s) in the TK2 gene.
• Onset of TK2d at ≤12 years of age as defined as the age at which the first TK2d symptom occurred.

You may not qualify if:

• Documented clinically significant central nervous system involvement.
• ALT or AST \>3 x upper limit of normal and total bilirubin \> 2 x ULN or International Normalized Ratio (INR) \>1.5.
• EtCO2\>45 mmHg if not on ventilatory support
• Current or prior treatment with nucleos(t)ides for TK2d.

Sponsors & Collaborators

• Zogenix MDS, Inc.: lead

MeSH Terms

Conditions

Mitochondrial Diseases; Muscle Weakness; Muscular Atrophy

Interventions

Deoxycytidine; Thymidine

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Manifestations; Neurologic Manifestations; Nervous System Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Atrophy; Pathological Conditions, Anatomical

Intervention Hierarchy (Ancestors)

Cytidine; Pyrimidine Nucleosides; Pyrimidines; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds; Deoxyribonucleosides; Nucleosides; Nucleic Acids, Nucleotides, and Nucleosides

Study Officials

• UCB Cares

  001 844 599 2273

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Model Details: This is a Phase 3b study. All participants will receive MT1621 up to a target dose of 400 mg/kg/day

Study Record Dates

• First Submitted: September 29, 2020
• First Posted: October 9, 2020
• Study Start: September 30, 2022
• Primary Completion: March 31, 2025
• Study Completion: April 30, 2025
• Last Updated: September 1, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share